Abnormal facial shape, and Abnormality of extrapyramidal motor function

Diseases related with Abnormal facial shape and Abnormality of extrapyramidal motor function

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Abnormality of extrapyramidal motor function that can help you solving undiagnosed cases.


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 13


Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Low match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Low match CHILDHOOD-ONSET NEMALINE MYOPATHY


Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

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Other less relevant matches:

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE


Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Low match ALG13-CDG


ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Intellectual disability Cognitive impairment Flexion contracture Clumsiness Encephalopathy Cardiomyopathy Abnormal pyramidal sign Dystonia Gait disturbance Choreoathetosis Ataxia Dysphagia Motor delay Bradykinesia Rigidity Pes cavus Attention deficit hyperactivity disorder Abnormality of movement Developmental regression Hypothyroidism Scoliosis Optic atrophy Recurrent infections Hyperreflexia Ptosis Delayed myelination Hypertelorism Arthrogryposis multiplex congenita Feeding difficulties in infancy Dysarthria Hypoplasia of the corpus callosum Failure to thrive Spasticity Short stature Hearing impairment Nystagmus Long face Growth delay

Rare Symptoms - Less than 30% cases


Abnormality of metabolism/homeostasis Broad forehead Midface retrusion Muscular hypotonia of the trunk Hypertonia Vomiting Intellectual disability, severe Hypermetropia Sparse hair Hyperactivity Irritability Mandibular prognathia Muscular hypotonia Neonatal hypotonia Cerebral atrophy Myopathic facies Babinski sign Peripheral neuropathy Polyneuropathy Triangular face Decreased testicular size Dehydration Short chin Hypergonadotropic hypogonadism Long philtrum Macrocephaly Hepatomegaly Sparse eyebrow Sensory neuropathy Hypogonadism Self-mutilation Diabetes mellitus Tremor Anteverted nares Micropenis Ventriculomegaly Low-set ears Opisthotonus High forehead Aciduria Gliosis Respiratory failure Sensorineural hearing impairment Cataract Neuronal loss in central nervous system Prominent nasal bridge Dyskinesia Hip dysplasia Talipes equinovarus High palate Myopathy Diarrhea Narrow face Acidosis Infantile spasms Abnormality of the cerebral white matter Exercise intolerance Brain atrophy Intellectual disability, mild Difficulty walking Myoclonus Cerebellar atrophy Metabolic acidosis Ectopic kidney Streak ovary Inability to walk Increased thyroid-stimulating hormone level Abnormal spermatogenesis Decreased serum insulin-like growth factor 1 Abnormal T-wave Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Progressive alopecia Fever Headache Edema Stroke Vertigo Dilatation Dementia Decreased serum testosterone level High pitched voice Prominent forehead Hyperhidrosis Hypoglycemia Abnormality of eye movement Respiratory tract infection Paralysis Neurological speech impairment Decreased serum estradiol Hypoplasia of the uterus Anodontia Prominent nose Abnormality of lipid metabolism Bilateral sensorineural hearing impairment Increased circulating gonadotropin level Amenorrhea Low hanging columella Dental malocclusion Misalignment of teeth Fine hair Shuffling gait Chronic lung disease Glioma Multinodular goiter Delayed puberty Hypotrichosis Gastrointestinal stroma tumor Psychosis Myocardial infarction Heart block Flat occiput Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Sensory axonal neuropathy Aplasia/Hypoplasia of the eyebrow Cortical gyral simplification Truncal obesity Long nose Primary amenorrhea Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Cerebellar vermis atrophy Hallucinations Sparse scalp hair Coma Retinopathy Abnormal cerebellum morphology Cryptorchidism Immunodeficiency Sloping forehead Intrauterine growth retardation Anemia Hypotelorism Apraxia Epidermal acanthosis Thrombocytopenia Strabismus Renal hypoplasia Cutaneous photosensitivity Broad-based gait Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Pigmentary retinopathy Limb undergrowth Glutaric acidemia Short philtrum Deeply set eye Severe short stature Inguinal hernia Clinodactyly Obesity Hernia Small for gestational age Convex nasal ridge Dilated cardiomyopathy Synophrys Dysmetria Falls Broad nasal tip Progressive cerebellar ataxia Renal agenesis Macrocephaly at birth Abnormal lung morphology Migraine Slurred speech Encephalitis Hyperkinesis Leukoencephalopathy Acanthosis nigricans Leukopenia Goiter Dysdiadochokinesis Intracranial hemorrhage Postural tremor Cerebral palsy Joint dislocation Large fontanelles Postnatal growth retardation Unilateral renal agenesis Bilateral cryptorchidism Hemiplegia Spastic diplegia Glutaric aciduria Dilation of lateral ventricles Insulin resistance Retinal hemorrhage Infantile encephalopathy Acute encephalopathy Fasting hypoglycemia Decreased plasma carnitine Abnormality of the retinal vasculature Malnutrition Cerebral ischemia Ketonuria Generalized dystonia Lymphopenia Bone marrow hypocellularity Malignant hyperthermia Bulbar palsy Neoplasm Deep philtrum Protruding ear Type 1 muscle fiber predominance Increased muscle lipid content Generalized limb muscle atrophy Reduced vital capacity Poor fine motor coordination Slender build Breech presentation Nemaline bodies Neuromuscular dysphagia Bulbar signs Fetal akinesia sequence Facial diplegia Neck muscle weakness Spinal rigidity Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Fatigable weakness of bulbar muscles Behavioral abnormality Respiratory insufficiency due to muscle weakness Parkinsonism Exotropia Stereotypy Tall stature Aganglionic megacolon Open mouth Chorea Joint hypermobility Malar flattening Joint hyperflexibility Ophthalmoplegia Autistic behavior Intellectual disability, moderate Aggressive behavior Constipation Absent speech EMG: myopathic abnormalities Scapular winging Cachexia Difficulty running Lethargy Impaired visuospatial constructive cognition Upgaze palsy Jerky ocular pursuit movements Impaired distal vibration sensation Titubation Hyperactive deep tendon reflexes Cirrhosis Urinary urgency Torticollis Limb ataxia Optic disc pallor Urinary incontinence Postural instability Gait ataxia Anal atresia Short distal phalanx of finger Muscle stiffness Micrognathia Waddling gait Limb muscle weakness Narrow chest Polyhydramnios Hyporeflexia Areflexia Reduced dihydropyrimidine dehydrogenase activity Cholestasis Extrapyramidal dyskinesia Intractable diarrhea Morphological abnormality of the pyramidal tract Reduced consciousness/confusion Excessive daytime somnolence Plagiocephaly Short phalanx of finger External ophthalmoplegia Redundant skin Camptodactyly Nonketotic hyperglycinemia Small hand EEG abnormality Coarse facial features Autism Hydrocephalus Visual impairment Fetal distress Abnormal bleeding Hyperglycinemia Exaggerated startle response Hand clenching Genu recurvatum Hip contracture Weak cry Overlapping toe Sleep disturbance Epileptic encephalopathy Trigonocephaly Type I transferrin isoform profile Mental deterioration Alopecia Frontal bossing Downslanted palpebral fissures Abnormality of lateral ventricle Abnormality of brain morphology Poor eye contact Hypsarrhythmia Global brain atrophy Adducted thumb Poor head control Microretrognathia Horizontal nystagmus Cerebral visual impairment Decreased body weight Oral-pharyngeal dysphagia Elbow flexion contracture Language impairment Abnormality of creatine metabolism Progressive neurologic deterioration Increased serum lactate Neutropenia Leukemia Underfolded superior helices Poor hand-eye coordination Duodenal ulcer Myeloid leukemia Urethral stenosis Impaired social interactions Ileus Speech apraxia Chronic constipation Athetosis Mask-like facies Myelodysplasia Acute myeloid leukemia Clonus Retrognathia Long eyelashes Esotropia Abnormality of the foot Dolichocephaly Hip dislocation Apnea Joint laxity Abnormality of the skeletal system Progressive encephalopathy Hypertension Depressed nasal bridge Congenital neutropenia 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Long neck



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Falls, related diseases and genetic alterations Abnormality of the skeletal system and Dyskinesia, related diseases and genetic alterations Feeding difficulties and Bradycardia, related diseases and genetic alterations Optic atrophy and Lumbar hyperlordosis, related diseases and genetic alterations Epicanthus and Dyspnea, related diseases and genetic alterations

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